Test Price
2,800 AED✅ Home Collection Available
POMT1 Gene Limb-Girdle Muscular Dystrophy (LGMD2N) Genetic Test
Executive Summary & Core Metrics
Accuracy: 99.9% diagnostic sensitivity via ISO-accredited NGS processing across the full POMT1 coding region.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
Clinical Guidance: Complimentary telephonic post-test interpretation by a Consultant Medical Geneticist to contextualize results within the complete neuromuscular evaluation.
Insurance: Direct billing verification and cashless claims assistance via WhatsApp at +971 54 548 8731.
Fixed Price: 2,800 AED inclusive of NGS analysis, bioinformatics interpretation, and secure digital report delivery.
Test Overview & Methodology
The POMT1 Gene LGMD2N Genetic Test delivers a definitive molecular diagnosis of autosomal recessive limb‑girdle muscular dystrophy type 2N (LGMD2N). Using next‑generation sequencing (NGS) on the Illumina® platform, the assay interrogates the entire coding region and conserved splice sites of the POMT1 gene while simultaneously detecting copy number variants. Clinical validation demonstrates 99.9% sensitivity for point mutations, small insertions/deletions, and large exonic rearrangements, establishing this as the first‑tier genetic test for LGMD2N confirmation and at‑risk family screening.
| Feature | DNA Labs UAE – NGS Full‑Gene Sequencing | Alternative – Single‑Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina®), full gene analysis with CNV detection | Sanger sequencing of selected exons; no large deletion/duplication analysis |
| Turnaround Time | 3–4 weeks | 6–8 weeks (limited laboratory availability) |
| Diagnostic Yield | 99.9% for point mutations, indels, and copy number variants | ~85% (misses large rearrangements) |
| Clinical Suitability | First‑tier test for LGMD2N confirmation and family screening | May require reflex to MLPA or NGS; not comprehensive |
Physician Insight & Safety Protocols
“The POMT1 NGS test provides a precise molecular anchor for LGMD2N diagnosis, yet its full clinical value emerges only when integrated with a thorough neuromuscular examination, serum creatine kinase trends, and a multi-generational family pedigree. A pathogenic variant confirms the subtype and guides surveillance for cardiac and respiratory complications, but it is not a substitute for coordinated multidisciplinary care. Genetic counselling should accompany result disclosure to support informed reproductive decision-making.”
Medication Advisory
⚠️ Critical Notice
Patients must maintain all prescribed neuromuscular and supportive therapies unless explicitly directed otherwise by their treating physician. Abrupt cessation or alteration of medication regimens following genetic test results may lead to accelerated clinical deterioration. Always consult your specialist before making any changes.
Patient Safety & Exclusion Criteria
📋 Exclusion Criteria
- Inability to provide informed consent or absence of a legally authorized representative.
- Acute medical illness requiring hospitalisation at the time of sample collection.
- Minors without a legal guardian present to consent (in accordance with UAE Federal Law).
🚨 Emergency Red Flags
- Sudden, severe muscle weakness affecting breathing or swallowing.
- New‑onset chest pain, palpitations, or syncope.
- Rapidly progressive loss of ambulation over days to weeks.
If any of these signs develop, seek immediate emergency medical attention.
Patient FAQ & Clinical Guidance
1. What is the POMT1 NGS test and why is it performed?
The POMT1 NGS test detects disease‑causing mutations in the POMT1 gene to confirm or exclude a diagnosis of LGMD2N. It is indicated for patients presenting with progressive proximal muscle weakness affecting the pelvic and shoulder girdles, calf hypertrophy, elevated serum creatine kinase, or a family history consistent with autosomal recessive limb‑girdle muscular dystrophy. A definitive genetic result enables accurate prognosis, carrier testing for at‑risk relatives, and informed reproductive planning.
2. How should I prepare for the test and what is the turnaround time?
A simple peripheral blood sample is collected by a certified phlebotomist; no fasting, dietary restriction, or special preparation is required. Our VIP mobile phlebotomy service brings a trained nurse to your home between 8 AM and 11 PM daily. Once the sample reaches the ISO‑accredited laboratory, results are issued within 3 to 4 weeks. You will receive a secure digital report with a clear clinical interpretation and a complimentary tele‑counselling session with a Consultant Medical Geneticist.
3. Who should consider this genetic test and what are the clinical implications?
Patients with progressive limb‑girdle weakness, elevated CK, or a family history of LGMD2N are appropriate candidates for this NGS test. It is routinely ordered by neurologists, medical geneticists, and genetic counsellors. A positive pathogenic variant confirms the LGMD2N subtype, which guides surveillance for cardiac and respiratory complications, informs physical therapy planning, and clarifies recurrence risks for family planning. A negative result may warrant broader neuromuscular gene panel testing to evaluate alternative aetiologies.
4. How is my genetic data protected under UAE law?
Your genetic information is safeguarded under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. DNA Labs UAE employs encrypted storage, role-based access controls, and strict data minimization protocols. Results are shared only with the ordering physician and the patient unless explicit consent is provided for broader disclosure. No genetic data is ever sold or used for purposes beyond the diagnostic intent without separate authorization.
UAE Regulatory & Data Privacy Adherence
🔒 Compliance & Accreditation
- Data Protection: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – all genetic and clinical data encrypted at rest and in transit.
- Health Information Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and audit trails.
- Medical Liability & Patient Consent: Informed consent processes follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing patient autonomy and clinical accountability.
- Laboratory Quality: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and MOHAP licensed (License No. 9834453).
- DHA Oversight: All testing and logistics operate under DHA Facility License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | POMT1 Gene Limb-Girdle Muscular Dystrophy (LGMD2N) Genetic Test – Next-Generation Sequencing Full Gene Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt at laboratory |
| Sample Type / Matrix | Whole Blood (Peripheral Venous Sample) – VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina®) – full coding region and conserved splice sites with CNV detection; bioinformatics pipeline aligned to GRCh38 |
| ICD-10-CM Code | G71.0 (Muscular dystrophy – limb-girdle type 2N) |
| LOINC Code | 94121-5 (POMT1 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians